WES congenital heartdisease ¹

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

Turnaround time
4 months

Method

  • Whole exome sequencing (WES)
Remarks
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed.This panel contains 58 genes.

Trio analysis is not an option regarding this test!

Panel version: DG 2.16
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA





€ 990

Exome

WES congenital heartdisease ¹

Turnaround time
4 months
Performing laboratory
Maastricht UMC+
€ 990

WES congenital heartdisease ¹




€ 990
Panel

panel heterotaxy (ACVR2B, CFC1, GDF1, NODAL, ZIC3) ¹

Turnaround time
8 weeks
Performing laboratory
Maastricht UMC+
€ 593

panel heterotaxy (ACVR2B, CFC1, GDF1, NODAL, ZIC3) ¹



€ 593

panel heterotaxy (ACVR2B, CFC1, GDF1, NODAL, ZIC3) ¹

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

Turnaround time
8 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA




€ 593
Panel

panel septation defect (ACTC1, GATA4, GATA5, GATA6, MYH6, NKX2-5) ¹

Turnaround time
8 weeks
Performing laboratory
Maastricht UMC+
€ 770

panel septation defect (ACTC1, GATA4, GATA5, GATA6, MYH6, NKX2-5) ¹



€ 770

panel septation defect (ACTC1, GATA4, GATA5, GATA6, MYH6, NKX2-5) ¹

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

Turnaround time
8 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA




€ 770
Gene

ACTC1 - congenital heart disease ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 361

ACTC1 - congenital heart disease ¹



€ 361

ACTC1 - congenital heart disease ¹

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

This product is also part of the following panels:

  • panel cardiomyopathy core targeting (46 genen) - HCM, DCM, ARVD/C, RCM ¹
  • panel septation defect (ACTC1, GATA4, GATA5, GATA6, MYH6, NKX2-5) ¹
  • WES congenital heartdisease ¹ (98.9% **)
  • WES heart disorders¹ (98.9% **)
  • WES Mendelian inherited disorders (98.9% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 102540
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 361
Gene

ACVR2B - congenital heart disease ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 386

ACVR2B - congenital heart disease ¹



€ 386

ACVR2B - congenital heart disease ¹

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

This product is also part of the following panels:

  • panel heterotaxy (ACVR2B, CFC1, GDF1, NODAL, ZIC3) ¹
  • WES congenital heartdisease ¹ (97.0% **)
  • WES heart disorders¹ (97.0% **)
  • WES Mendelian inherited disorders (97.0% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 602730
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 386
Gene

CFC1 - congenital heart disease ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 353

CFC1 - congenital heart disease ¹



€ 353

CFC1 - congenital heart disease ¹

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

This product is also part of the following panels:

  • panel heterotaxy (ACVR2B, CFC1, GDF1, NODAL, ZIC3) ¹
  • WES congenital heartdisease ¹ (80.1% **)
  • WES heart disorders¹ (80.1% **)
  • WES Mendelian inherited disorders (80.1% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 605194
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 353
Gene

CRELD1 - congenital heart disease ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 386

CRELD1 - congenital heart disease ¹



€ 386

CRELD1 - congenital heart disease ¹

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

This product is also part of the following panels:

  • WES congenital heartdisease ¹ (95.9% **)
  • WES heart disorders¹ (95.9% **)
  • WES Mendelian inherited disorders (95.9% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 607170
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 386
Gene

GATA4 - congenital heart disease ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 410

GATA4 - congenital heart disease ¹



€ 410

GATA4 - congenital heart disease ¹

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

This product is also part of the following panels:

  • panel septation defect (ACTC1, GATA4, GATA5, GATA6, MYH6, NKX2-5) ¹
  • WES congenital heartdisease ¹ (86.7% **)
  • WES disorders of sex development (86.7% **)
  • WES heart disorders¹ (86.7% **)
  • WES Mendelian inherited disorders (86.7% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 600576
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 410
Gene

GATA5 - congenital heart disease ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 369

GATA5 - congenital heart disease ¹



€ 369

GATA5 - congenital heart disease ¹

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

This product is also part of the following panels:

  • panel septation defect (ACTC1, GATA4, GATA5, GATA6, MYH6, NKX2-5) ¹
  • WES congenital heartdisease ¹ (99.2% **)
  • WES heart disorders¹ (99.2% **)
  • WES Mendelian inherited disorders (99.2% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 611496
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 369
Gene

GATA6 - congenital heart disease ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 386

GATA6 - congenital heart disease ¹



€ 386

GATA6 - congenital heart disease ¹

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

This product is also part of the following panels:

  • panel septation defect (ACTC1, GATA4, GATA5, GATA6, MYH6, NKX2-5) ¹
  • WES congenital heartdisease ¹ (92.5% **)
  • WES heart disorders¹ (92.5% **)
  • WES Mendelian inherited disorders (92.5% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 601656
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 386
Gene

GDF1 - congenital heart disease ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 353

GDF1 - congenital heart disease ¹



€ 353

GDF1 - congenital heart disease ¹

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

This product is also part of the following panels:

  • panel heterotaxy (ACVR2B, CFC1, GDF1, NODAL, ZIC3) ¹
  • WES comprehensive preconception carrier test ¹
  • WES congenital heartdisease ¹ (84.7% **)
  • WES heart disorders¹ (84.7% **)
  • WES Mendelian inherited disorders (84.7% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 602880
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 353
Gene

JAG1 - congenital heart disease ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 591

JAG1 - congenital heart disease ¹



€ 591

JAG1 - congenital heart disease ¹

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

This product is also part of the following panels:

  • WES congenital heartdisease ¹ (97.1% **)
  • WES heart disorders¹ (97.1% **)
  • WES intellectual disability (97.1% **)
  • WES Mendelian inherited disorders (97.1% **)
  • WES renal disorders (97.1% **)
  • WES vision disorders (97.1% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries
  • Deletion/duplication analysis (MLPA)

OMIM: 601920
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 591
Gene

MYH6 - congenital heart disease ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 558

MYH6 - congenital heart disease ¹



€ 558

MYH6 - congenital heart disease ¹

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

This product is also part of the following panels:

  • panel cardiomyopathy core targeting (46 genen) - HCM, DCM, ARVD/C, RCM ¹
  • panel septation defect (ACTC1, GATA4, GATA5, GATA6, MYH6, NKX2-5) ¹
  • WES congenital heartdisease ¹ (95.3% **)
  • WES heart disorders¹ (95.3% **)
  • WES Mendelian inherited disorders (95.3% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 160710
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 558
Gene

NKX2-5 - congenital heart disease ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 336

NKX2-5 - congenital heart disease ¹



€ 336

NKX2-5 - congenital heart disease ¹

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

This product is also part of the following panels:

  • panel septation defect (ACTC1, GATA4, GATA5, GATA6, MYH6, NKX2-5) ¹
  • WES congenital heartdisease ¹ (99.9% **)
  • WES heart disorders¹ (99.9% **)
  • WES Mendelian inherited disorders (99.9% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 600584
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 336
Gene

NODAL - congenital heart disease ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 386

NODAL - congenital heart disease ¹



€ 386

NODAL - congenital heart disease ¹

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

This product is also part of the following panels:

  • panel heterotaxy (ACVR2B, CFC1, GDF1, NODAL, ZIC3) ¹
  • WES congenital heartdisease ¹ (100.0% **)
  • WES heart disorders¹ (100.0% **)
  • WES Mendelian inherited disorders (100.0% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 601265
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 386
Gene

NOTCH1 - congenital heart disease ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 591

NOTCH1 - congenital heart disease ¹



€ 591

NOTCH1 - congenital heart disease ¹

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

This product is also part of the following panels:

  • WES congenital heartdisease ¹ (98.9% **)
  • WES heart disorders¹ (98.9% **)
  • WES Mendelian inherited disorders (98.9% **)
  • WES skin disorders¹ (98.9% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 190198
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 591
Gene

TBX20 - congenital heart disease ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 378

TBX20 - congenital heart disease ¹



€ 378

TBX20 - congenital heart disease ¹

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

This product is also part of the following panels:

  • WES congenital heartdisease ¹ (99.9% **)
  • WES heart disorders¹ (99.9% **)
  • WES Mendelian inherited disorders (99.9% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 606061
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 378
Gene

TBX5 - congenital heart disease ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 451

TBX5 - congenital heart disease ¹



€ 451

TBX5 - congenital heart disease ¹

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

This product is also part of the following panels:

  • WES congenital heartdisease ¹ (100.0% **)
  • WES heart disorders¹ (100.0% **)
  • WES Mendelian inherited disorders (100.0% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 601620
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 451
Gene

ZIC3 - congenital heart disease ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Maastricht UMC+
€ 361

ZIC3 - congenital heart disease ¹



€ 361

ZIC3 - congenital heart disease ¹

This test is available for the following conditions:

  • Conditions > Cardiovascular > Congenital heart disease

This product is also part of the following panels:

  • panel heterotaxy (ACVR2B, CFC1, GDF1, NODAL, ZIC3) ¹
  • WES congenital heartdisease ¹ (99.8% **)
  • WES heart disorders¹ (99.8% **)
  • WES Mendelian inherited disorders (99.8% **)

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 300265
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 361